Found 7392 SAVs (36.7 %)from pleiotropic protein and 12743 SAVs (63.3 %) from non-pleiotropic protein.
15222 disease SAVs (75.6 %) and 4913 non-disease (24.4 %).
20135 items found (page 166 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P17302 | pleiotropic | VAR_014097 | p.Tyr185His | Non-Disease | rs2228962 | - | - |
P17302 | pleiotropic | VAR_015748 | p.Ser18Pro | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_014096 | p.Ala168Thr | Non-Disease | rs2228961 | - | - |
P17302 | pleiotropic | VAR_059017 | p.Ser373Gly | Non-Disease | - | - | - |
P17302 | pleiotropic | VAR_015759 | p.Ile130Thr | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_071011 | p.Leu106Arg | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_038357 | p.Ile31Met | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_015750 | p.Gly22Glu | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_032925 | p.Arg376Gln | Disease | - | - | Atrioventricular septal defect 3 (AVSD3) [MIM:600309] Hypoplastic left heart syndrome 1 (HLHS1) [MIM:241550] |
P17302 | pleiotropic | VAR_059004 | p.Met147Thr | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_071010 | p.Ser86Tyr | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_015752 | p.Ala40Val | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_058992 | p.Leu11Pro | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_059005 | p.Thr154Ala | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_058994 | p.Gln49Pro | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_059003 | p.Glu110Asp | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_015756 | p.Leu90Val | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_015751 | p.Lys23Thr | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_015761 | p.Gly138Arg | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_038360 | p.Lys134Asn | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_015747 | p.Tyr17Ser | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_059002 | p.Leu106Pro | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_014095 | p.Arg148Gln | Non-Disease | rs2228960 | - | - |
P17302 | pleiotropic | VAR_058997 | p.Arg76His | Disease | - | - | Hallermann-Streiff syndrome (HSS) [MIM:234100] |
P17302 | pleiotropic | VAR_015762 | p.Arg202His | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_014100 | p.Arg239Trp | Non-Disease | rs2227887 | - | - |
P17302 | pleiotropic | VAR_014094 | p.Asp124Glu | Non-Disease | rs2228966 | - | - |
P17302 | pleiotropic | VAR_014101 | p.Pro283Leu | Non-Disease | rs2228974 | - | - |
P17302 | pleiotropic | VAR_015758 | p.Lys102Asn | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_059009 | p.Ser201Phe | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_015749 | p.Gly21Arg | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_015764 | p.Ala253Val | Non-Disease | rs17653265 | 0.006 | - |
P17302 | pleiotropic | VAR_058991 | p.Leu7Val | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_059006 | p.Thr154Asn | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_058999 | p.Val96Ala | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_059010 | p.Ser220Tyr | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_070440 | p.Lys206Arg | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_014099 | p.Thr204Met | Non-Disease | rs2228965 | - | - |
P17302 | pleiotropic | VAR_070441 | p.Arg239Gln | Disease | - | - | Craniometaphyseal dysplasia, autosomal recessive (CMDR) [MIM:218400] |
P17302 | pleiotropic | VAR_014102 | p.Thr290Asn | Non-Disease | rs2227881 | - | - |
P17302 | pleiotropic | VAR_014098 | p.Arg202Cys | Non-Disease | rs2228964 | - | - |
P17302 | pleiotropic | VAR_071009 | p.Asp47His | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_058996 | p.Pro59His | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_015760 | p.Lys134Glu | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_015763 | p.Val216Leu | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_059000 | p.Val96Glu | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_038358 | p.Ser69Tyr | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_059008 | p.His194Pro | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_015753 | p.Gln49Lys | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_038361 | p.Gly143Ser | Disease | rs28931600 | - | Syndactyly 3 (SDTY3) [MIM:186100] |